Meral Gunay-Aygun, Esperanza Font-Montgomery, Linda Lukose, Maya Tuchman, Jennifer Graf, Joy C Bryant, Robert Kleta, Angelica Garcia, Hailey Edwards, Katie Piwnica-Worms, David Adams, Isa Bernardini, Roxanne E Fischer, Donna Krasnewich, Neal Oden, Alex Ling, Zenaide Quezado, Colleen Zak, Kailash T Daryanani, Baris Turkbey, Peter Choyke, Lisa M Guay-Woodford, William A Gahl
BACKGROUND AND OBJECTIVES: Renal function and imaging findings have not been comprehensively and prospectively characterized in a broad age range of patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD). DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Ninety potential ARPKD patients were examined at the National Institutes of Health Clinical Center. Seventy-three fulfilled clinical diagnostic criteria, had at least one PKHD1 mutation, and were prospectively evaluated using magnetic resonance imaging (MRI), high-resolution ultrasonography (HR-USG), and measures of glomerular and tubular function...
June 2010: Clinical Journal of the American Society of Nephrology: CJASN